Varaico: Literature-Extracted Genetic Variants

DHTKD1

191 papers

RefSeq Summary

This gene encodes a component of a mitochondrial 2-oxoglutarate-dehydrogenase-complex-like protein involved in the degradation pathways of several amino acids, including lysine. Mutations in this gene...

Pfam Domains

E1_dhaa 195–504UCSCDehydrogenase E1 component

Transket_pyraa 567–773UCSCTransketolase, pyrimidine binding domain

OxoGdeHyase_Caa 776–918UCSC2-oxoglutarate dehydrogenase C-terminal

Gene Aliases

HGNC Name

dehydrogenase E1 and transketolase domain containing 1

HGNC Alias Symbols

KIAA1630; MGC3090; DKFZP762M115; CMT2Q; OADC-E1; OADH-E1; E1a

Papers

RefSeq ID

Protein change

DNA change

1–12 of 203 variants

29 papers

NM_018706.7

p.G729R

c.2185G>A

29 papers

NM_018706.7

p.G729R

c.2185G>C

9 papers

NM_018706.7

p.Y485*

c.1455T>G

7 papers

NM_018706.7

p.I607M

c.1821C>G

6 papers

NM_018706.7

p.V360A

c.1079T>C

6 papers

NM_018706.7

p.R455Q

c.1364G>A

6 papers

NM_018706.7

p.Y485*

c.1455T>A

6 papers

NM_018706.7

p.R715C

c.2143C>T

5 papers

NM_018706.7

p.R163Q

c.488G>A

5 papers

NM_018706.7

p.A210S

c.628G>T

5 papers

NM_018706.7

p.Y272D

c.814T>G

5 papers

NM_018706.7

p.Q305H

c.915G>C